Variant report

Variant	rs11183185
Chromosome Location	chr12:46116094-46116095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45982849..45985395-chr12:46114233..46117039,2	K562	blood:
2	chr12:46102452..46106078-chr12:46112003..46116824,4	K562	blood:
3	chr12:46107312..46109855-chr12:46114820..46116430,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11183191	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183192	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183208	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11183210	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11183217	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183226	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11183229	0.82[AFR][1000 genomes]
rs2408437	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3815661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768098	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56176440	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73095497	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	nsv899053	chr12:46100053-46141372	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46097800-46118800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:46100600-46118800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:46105000-46116600	Weak transcription	Fetal Kidney	kidney
4	chr12:46107600-46118000	Weak transcription	NHEK	skin
5	chr12:46107600-46118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:46107600-46118800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:46107600-46119000	Weak transcription	HSMM	muscle
8	chr12:46108400-46118600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:46108800-46119000	Weak transcription	Fetal Stomach	stomach
10	chr12:46109000-46116800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:46110000-46116600	Weak transcription	Fetal Heart	heart
12	chr12:46110400-46119000	Weak transcription	Right Ventricle	heart
13	chr12:46110600-46119800	Weak transcription	Pancreas	Pancrea
14	chr12:46111000-46119000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:46111600-46117800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr12:46111600-46119200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:46111800-46117200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:46112000-46117200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:46112000-46118600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:46112200-46119000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:46112400-46117800	Weak transcription	Fetal Intestine Large	intestine
22	chr12:46112400-46118800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:46112600-46117800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:46112800-46119000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:46113000-46116200	Enhancers	Psoas Muscle	Psoas
26	chr12:46113200-46118000	Weak transcription	HepG2	liver
27	chr12:46113200-46118800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:46113400-46117400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:46113400-46118800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:46113400-46118800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:46113600-46116400	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:46113600-46118600	Weak transcription	K562	blood
33	chr12:46113800-46116600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:46114000-46118000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:46114200-46119000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:46114200-46119000	Weak transcription	Fetal Intestine Small	intestine
37	chr12:46114400-46117600	Weak transcription	HUVEC	blood vessel
38	chr12:46114400-46118000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:46114600-46118800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:46114800-46116400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:46115000-46117000	Enhancers	Fetal Brain Female	brain
42	chr12:46115000-46118800	Enhancers	Brain Anterior Caudate	brain
43	chr12:46115200-46116600	Enhancers	Small Intestine	intestine
44	chr12:46115200-46117200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:46115200-46117800	Enhancers	Brain Germinal Matrix	brain
46	chr12:46115200-46118800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:46115200-46118800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:46115400-46116200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:46115400-46116400	Enhancers	Brain Hippocampus Middle	brain
50	chr12:46115400-46116400	Enhancers	Thymus	Thymus

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